infantile gm1 gangliosidosis

Preferred Label : infantile gm1 gangliosidosis;

Origin ID

D6-76020;

UMLS CUI

C0268271;

Currated CISMeF NLP mapping
- GM1 gangliosidosis type 1 [ORDO Disease]
- GM1 gangliosidosis type 1 [ICD-11 More detail]
- GM1 gangliosidosis type 1 [DO Concept]
- Gm1-gangliosidosis, type I [OMIM Phenotype]
- Infantile GM1 gangliosidosis (disorder) [SNOMED CT concept]
- gangliosidosis, GM1 [MeSH Descriptor]
- gangliosidosis, generalized GM1, type 1 [MeSH concept]
ICD-10 exact mapping(s)
- Other gangliosidosis [ICD-10 Sub-category (who)]
Metaterm(s)
- metabolism [CISMeF Metaterm]
Référence SNOMED
- beta-galactosidase [SNOMED Notion]
- congenital deficiency, nos [SNOMED Notion]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- GM1 gangliosidosis type 1 [ICD-11 More detail]
- Gm1-gangliosidosis, type I [OMIM Phenotype]
- Infantile GM1 gangliosidosis (disorder) [SNOMED CT concept]
- gangliosidosis, generalized GM1, type 1 [MeSH concept]
Validated automatic mappings to NTBT
- GM1 gangliosidosis [ICD-11 More detail]